Someone is more at risk for GSD if they have a family member with the disease. With many types of GSD, symptoms first appear in babies or in very young children.

Symptoms will vary based on the type of GSD a child has and which enzyme they are missing. Because GSD most often affects the muscles and the liver, those areas show the most symptoms. The symptoms of GSD may look like other health problems.

Some types of GSD can appear in adults. See your healthcare provider if you think you may have GSD. The provider will do a physical exam to check for symptoms such as an enlarged liver or weak muscles.

The sample will be taken to a lab. It will be tested to see how much of a certain enzyme is in that part of the body. Genetic testing may also be sent to confirm the subtype diagnosis.

If you are pregnant and concerned about GSD, your healthcare provider may do some tests before your baby is born prenatal tests to check for GSD.

Frequent feedings may be needed to prevent low blood sugar. In some cases, your child may need overnight feeding via a nasogastric tube. Your child may also have to take certain medicines.

For other types of GSD, your child may need to limit exercise to avoid muscle cramps. They may need to have a medical treatment to replace the enzyme that is missing enzyme replacement therapy. Glycogen buildup can hurt the liver, the heart, the neurologic system, and muscles. This can create other problems if your child has certain types of GSD, such as:.

Type I. This can cause arthritis, dental problems, inflammatory bowel disease, recurring infections, and harmless benign tumors in the liver. Type III. This can cause harmless benign tumors in the liver.

Slow growth and muscle weakness are also common with this type of glycogen storage disease. Type IV. Over time, this can cause scarring cirrhosis of the liver. This disease leads to liver failure.

Severe illness may lead to liver cirrhosis and cardiomyopathy. These may need supportive treatment as the symptoms get worse. Your child may need a liver transplant if they have severe liver disease.

There is no way to prevent glycogen storage disease. But early treatment can help control symptoms once a child has GSD. If you or your partner have GSD, or a family history of this disease, see a genetic counselor before you get pregnant.

They can find out your chances of having a child with GSD. A child with GSD may have special needs and will need continued follow up with multiple healthcare providers. Be sure that your child gets regular medical care.

It is important that your child's healthcare provider checks their condition. Regular medical visits will also help you keep up with new treatment choices. Teach your child and any siblings about GSD in an age-appropriate manner. An educated, supportive, family approach will help your child cope with the illness and also help family members manage the stress of a chronic illness.

Glycogen storage disease GSD is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. It is passed down from parents to children inherited. For most GSDs, each parent must pass on one abnormal copy of the same gene.

There are at least 9 known types of GSD. Symptoms often first appear in babies or young children. In some cases, GSD can appear in adults. At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are. Know what to expect if your child does not take the medicine or have the test or procedure. If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

This is important if your child becomes ill and you have questions or need advice. This is caused by mutations in an enzyme called glycogen phosphorylase, which helps breakdown glycogen in the liver.

These individuals have fasting hypoglycemia, an enlarged liver and poor growth, though this tends to be milder than GSD Type I or III. Some children with type VI will not have large livers and may be incorrectly diagnosed with ketotic hypoglycemia. This condition is very similar to GSD Type VI and usually causes mild fasting hypoglycemia, an enlarged liver and poor growth.

Like type VI they may also be diagnosed as having ketotic hypoglycemia as they too may not have enlarged livers. This condition is more common in boys as it is passed from mothers to their sons because the gene is on the X chromosome. This is caused by mutations in an enzyme called glycogen branching enzyme, which helps produce glycogen in muscle and liver.

Individuals can have a wide range of severity of symptoms, largely nerve and muscle problems, an enlarged liver, liver failure and poor growth. This is caused by mutations in an enzyme called muscle phosphorylase, which helps break down glycogen in muscle. Individuals have muscle weakness, especially with exercise.

This is caused by mutations in an enzyme called phosphofructokinase, which helps produce glycogen in muscle. This was originally included as a glycogen storage disease, but has since been classified as another type of disorder called a lysosomal storage disease.

It is caused by mutations in an enzyme called lysosomal acid maltase and results in heart dysfunction, muscle weakness and difficulty exercising. Liver GSDs are most commonly diagnosed when a child is growing poorly or not gaining weight and has an enlarged liver.

In addition, they can be diagnosed if a child has an episode of hypoglycemia and elevated ketone levels. Muscle GSDs are usually diagnosed when a child is discovered to have heart problems, muscle weakness or difficulty exercising.

Using a blood sample, the genes that make the enzymes responsible for GSDs can be tested for mutations. For those children with liver GSDs with hypoglycemia, the most important goal of treatment is to prevent hypoglycemia and elevated ketone levels.

Infants and younger children require frequent feedings, and some may require continuous feeds or glucose-containing fluids through a feeding tube. Uncooked cornstarch is a long-acting source of carbohydrates which can be given several times a day and overnight when children get older and go longer between feeds.

Other medicines may be used to treat liver problems. When children with liver GSDs get sick, they are at increased risk of hypoglycemia, elevated ketones and lactic acidosis if they have GSD Type I , and may have to be admitted to the hospital for intravenous IV glucose-containing fluids.

While there is no specific treatment for many muscle GSDs, avoiding intense exercise to prevent muscle fatigue may be necessary. There are multiple excellent patient and parent advocacy groups for patients with glycogen storage disease, including The Association for Glycogen Storage Disease www.

Learn More. Join PES Contact Find a Pediatric Endocrinologist. Glycogen Storage Disease: A Guide for Families. Clinical Topic. Publication Date October 4, File Downloads Download PDF English.

What are glycogen storage diseases? What causes glycogen storage diseases? What are the symptoms of glycogen storage diseases? What are the different types of glycogen storage diseases?

The treatment for GSD III is a little different than for GSD 1 as these children need to eat a lot of protein in addition to carbohydrates — Type VI : is also called Hers disease. Some children with type VI will not have large livers and may be incorrectly diagnosed with ketotic hypoglycemia — Type IX : is caused by mutations in an enzyme called glycogen phosphorylase kinase, which helps breakdown glycogen in the liver.

This condition is more common in boys as it is passed from mothers to their sons because the gene is on the X chromosome There are several types of muscle GSDs, each of which is very rare. How are glycogen storage diseases diagnosed?

How are glycogen storage diseases treated? How can I learn more about glycogen storage diseases?